Congenital sucrase-isomaltase deficiency
Congenital Sucrase-Isomaltase Deficiency (CSID) is a rare inherited disorder that affects the digestive system, causing difficulties in the breakdown of certain sugars in the body.
genetic disorder
Acute Hepatic Porphyria: Symptoms, Causes, Diagnosis, and Treatment
Acute hepatic porphyria (AHP) is a group of rare genetic disorders characterized by the accumulation of porphyrins and their precursors in the liver, leading to
Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS)
Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) is a rare primary immunodeficiency caused by genetic mutations in the PIK3CD or PIK3R1 genes, which regulate the phosphoinositide